All patients with pediatric MDS with monosomy 7, del 7q and der(1;7) and probably all adult MDS patients with these chromosomal aberrations should be tested with gene panels not only covering GATA2 associated disorders, but also including SAMD9 and SAMD9L mutations on genetic material not obtained from blood cells. The gene discussed is SAMD9L; the disease is myelodysplastic syndrome.